MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: X-linked centronuclear myopathy ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.800 definitive 1.000 70 140 1995 2019